Zhong Jingyu, Hu Yangfan, Si Liping, Xing Yue, Geng Jia, Jiao Qiong, Zhang Huizhen, Yao Weiwu
Department of Imaging, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, 1111 XianXia Road, Shanghai 200336, China.
Department of Radiology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 YiShan Road, Shanghai 200233, China.
J Bone Oncol. 2020 Nov 5;26:100336. doi: 10.1016/j.jbo.2020.100336. eCollection 2021 Feb.
Perivascular epithelioid cell tumors (PEComas) are a family of mesenchymal tumors that rarely arise as a primary bone tumor.
We report a case of primary malignant bone PEComa. A literature review via PubMed, Embase and Web of Science databases with the keyword "PEComa" and "bone" was performed.
We reported a 33-year-old female with primary malignant bone PEComa in right distal humerus. The patient received an inhibitor of the mammalian target of rapamycin (mTOR) protein based on negative molecular investigation result of transcription factor E3 () rearrangement, and additional therapies including palliative radiotherapy, anti-angiogenics and immunotherapy when the disease progression was detected. The patient was alive with the disease twenty-three months postoperatively. A total of nineteen related literature cases were retrieved and reviewed. Taking current case into account, ten males and ten females with median age of 24 years (range, 3-93 years) were identified, who were most frequently affected in tibia. The median follow-up duration of 24 months (range, 3-96 months). One patient died due to this disease, and six patients showed metastases. Three patients experienced recurrence, and two of them experienced twice and three times, respectively.
To our knowledge, this is the first case of primary malignant bone PEComa arising in humerus. Clinicopathological and radiological correlation is mandatory to the correct diagnosis and to determine its malignancy. More studies are required to understand the role of molecular test and imaging in selecting suitable treatment and mechanisms of treatment resistance.
血管周上皮样细胞肿瘤（PEComas）是间充质肿瘤家族，很少作为原发性骨肿瘤出现。
我们报告一例原发性恶性骨PEComa病例。通过PubMed、Embase和Web of Science数据库，以“PEComa”和“bone”为关键词进行了文献综述。
我们报告了一名33岁女性，右肱骨远端发生原发性恶性骨PEComa。基于转录因子E3（）重排的分子检测结果为阴性，患者接受了哺乳动物雷帕霉素靶蛋白（mTOR）抑制剂治疗，在检测到疾病进展时还接受了包括姑息性放疗、抗血管生成和免疫治疗在内的其他治疗。患者术后23个月仍带瘤生存。共检索并回顾了19例相关文献病例。结合当前病例，确定了10名男性和10名女性，中位年龄为24岁（范围3 - 93岁），最常受累部位为胫骨。中位随访时间为24个月（范围3 - 96个月）。1例患者死于该疾病，6例患者出现转移。3例患者复发，其中2例分别复发2次和3次。
据我们所知，这是首例发生于肱骨的原发性恶性骨PEComa。临床病理与放射学的相关性对于正确诊断和确定其恶性程度至关重要。需要更多研究来了解分子检测和影像学在选择合适治疗方法及治疗耐药机制中的作用。
